Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8658 | 26197;26198;26199 | chr2:178715214;178715213;178715212 | chr2:179579941;179579940;179579939 |
| N2AB | 8341 | 25246;25247;25248 | chr2:178715214;178715213;178715212 | chr2:179579941;179579940;179579939 |
| N2A | 7414 | 22465;22466;22467 | chr2:178715214;178715213;178715212 | chr2:179579941;179579940;179579939 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1182186384  |
-0.579 | 0.427 | N | 0.478 | 0.086 | 0.12205267543 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/P | rs1182186384 |
-0.579 | 0.427 | N | 0.478 | 0.086 | 0.12205267543 | gnomAD-4.0.0 | 2.0529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69873E-06 | 0 | 0 |
| A/V | None | None | 0.002 | N | 0.161 | 0.064 | 0.181679512989 | gnomAD-4.0.0 | 3.18338E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71834E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3532 | ambiguous | 0.3222 | benign | -0.855 | Destabilizing | 0.776 | D | 0.365 | neutral | None | None | None | None | N |
| A/D | 0.1978 | likely_benign | 0.1838 | benign | -0.89 | Destabilizing | 0.269 | N | 0.468 | neutral | N | 0.389519335 | None | None | N |
| A/E | 0.182 | likely_benign | 0.1708 | benign | -1.024 | Destabilizing | 0.124 | N | 0.443 | neutral | None | None | None | None | N |
| A/F | 0.2283 | likely_benign | 0.2084 | benign | -1.17 | Destabilizing | 0.006 | N | 0.255 | neutral | None | None | None | None | N |
| A/G | 0.115 | likely_benign | 0.1131 | benign | -0.761 | Destabilizing | 0.007 | N | 0.323 | neutral | N | 0.40302735 | None | None | N |
| A/H | 0.3288 | likely_benign | 0.3072 | benign | -0.829 | Destabilizing | 0.928 | D | 0.447 | neutral | None | None | None | None | N |
| A/I | 0.1615 | likely_benign | 0.1509 | benign | -0.54 | Destabilizing | 0.477 | N | 0.437 | neutral | None | None | None | None | N |
| A/K | 0.2872 | likely_benign | 0.2746 | benign | -0.91 | Destabilizing | 0.01 | N | 0.153 | neutral | None | None | None | None | N |
| A/L | 0.1323 | likely_benign | 0.1238 | benign | -0.54 | Destabilizing | 0.274 | N | 0.397 | neutral | None | None | None | None | N |
| A/M | 0.1311 | likely_benign | 0.1283 | benign | -0.382 | Destabilizing | 0.928 | D | 0.415 | neutral | None | None | None | None | N |
| A/N | 0.1551 | likely_benign | 0.1419 | benign | -0.574 | Destabilizing | 0.028 | N | 0.464 | neutral | None | None | None | None | N |
| A/P | 0.4949 | ambiguous | 0.4978 | ambiguous | -0.54 | Destabilizing | 0.427 | N | 0.478 | neutral | N | 0.51115768 | None | None | N |
| A/Q | 0.2369 | likely_benign | 0.2214 | benign | -0.888 | Destabilizing | 0.646 | D | 0.506 | neutral | None | None | None | None | N |
| A/R | 0.2579 | likely_benign | 0.2435 | benign | -0.416 | Destabilizing | 0.477 | N | 0.458 | neutral | None | None | None | None | N |
| A/S | 0.0745 | likely_benign | 0.0705 | benign | -0.811 | Destabilizing | None | N | 0.147 | neutral | N | 0.346576634 | None | None | N |
| A/T | 0.065 | likely_benign | 0.064 | benign | -0.869 | Destabilizing | 0.001 | N | 0.143 | neutral | N | 0.38072928 | None | None | N |
| A/V | 0.0902 | likely_benign | 0.0881 | benign | -0.54 | Destabilizing | 0.002 | N | 0.161 | neutral | N | 0.422711976 | None | None | N |
| A/W | 0.5414 | ambiguous | 0.5186 | ambiguous | -1.321 | Destabilizing | 0.993 | D | 0.457 | neutral | None | None | None | None | N |
| A/Y | 0.3152 | likely_benign | 0.2857 | benign | -0.974 | Destabilizing | 0.762 | D | 0.505 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.